Concept information
...
Female Urogenital Diseases
Urologic Diseases
Kidney Diseases
Renal Tubular Transport, Inborn Errors
...
Male Urogenital Diseases
Urologic Diseases
Kidney Diseases
Renal Tubular Transport, Inborn Errors
Preferred term
Renal Aminoacidurias
Type
-
Topical Descriptor
Broader concept
Narrower concepts
Entry terms
- Aminoaciduria, Renal
Note
- coordinate IM with specific amino acid /urine (IM)
Scope note
- A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
History note
- 2007 (1963)
In other languages
-
Finnish
-
munuaisperäinen aminoasiduria
-
munuaisperäinen aminohappovirtsaisuus
-
renaalinen aminoasiduria
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Swedish
URI
http://www.yso.fi/onto/mesh/D000608
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